T15I (p.Thr15Ile) variant of FKRP (Q9H9S5)
T15I (p.Thr15Ile) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy. The record also includes structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- rs2054889166
- ClinGen CA406494554
- ClinVar RCV001309029
- ClinVar RCV005614516
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available